Abstract
Several different lysosomal storage diseases, mainly mucopolysaccharidosis (MPS) type I, II, and VI, are complicated by severe obstruction of the upper airways, tracheobronchial malacia, and/or stenosis of the lower airways. Although enzyme replacement therapies (ERTs) are available, the impact of these on tracheobronchial alterations has not been reported. By extending the life expectancy of MPS patients with ERTs, airway problems may become more prevalent at advanced ages. These airway abnormalities can result in severe, potentially fatal, difficulties during anesthetic procedures. Usually, upper airway obstruction is treated by tracheostomy. However, with lower airway malacia and/or stenosis, there are no procedures available to date to address these difficulties. We report the first cases using a new technique of tracheal stenting in patients with MPS type VI (Maroteaux–Lamy syndrome) and type II (Hunter syndrome) who had almost complete tracheal occlusion and total airway collapse. An updated literature review is also reported.
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Communicated by: Verena Peters
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Synopsis
We report the first cases and their follow-up of tracheal stenting using a new technique in patients with MPS type VI and II who had almost complete tracheal occlusion and total airway collapse.
Conflict of Interest
Christoph Kampmann declares that he has no conflict of interest.
Christiane M. Wiethoff declares that she has no conflict of interest.
Ralf G. Huth declares that he has no conflict of interest.
Eugen Mengel declares that he has no conflicts of interest.
Gundula Staatz declares that she has no conflicts of interest.
Michael Beck declares no conflicts of interest.
Stefan Gehring declares no conflicts of interest.
Torsten Mewes declares that he has no conflicts of interest.
Tariq Abu-Tair declares that he has no conflicts of interest.
Christoph Kampmann has received honoraria for lectures and compensation for travel and accommodation from Biomarin and Shire.
Eugen Mengel has received honoraria for lectures and compensation for travel and accommodation from Biomarin and Shire and an unrestricted grant from Genzyme.
Michael Beck has received honoraria for lectures and compensation for travel and accommodation and unrestricted grants from Shire, Genzyme, Actelion, and Biomarin.
All authors declare that they have no competing interests.
Informed Consent
Treated and reported patients were in end-stage disease with an acute life-threatening condition; it was the absolute wish of the parents and guardians to offer the patients a treatment strategy. Therefore, the basis of this report is on intention to treat.
Details of the Contribution of Individual Authors
CK, TW, RGH, and CMW have conducted the interventions,
CK and CMW have written the manuscript,
GS and TA-T delivered 3D scanning,
MB, EM, and SG taken care of the patients before and during procedures,
CK, CMW, and TA-T were planning and reporting the work described in this article, and
MB and EM made important contributions to the manuscript.
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Kampmann, C. et al. (2016). Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 33. JIMD Reports, vol 33. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_578
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DOI: https://doi.org/10.1007/8904_2016_578
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